MCID: SYN109
MIFTS: 11

Syndrome with a Dandy-Walker Malformation As Major Feature

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndrome with a Dandy-Walker Malformation As Major Feature

MalaCards integrated aliases for Syndrome with a Dandy-Walker Malformation As Major Feature:

Name: Syndrome with a Dandy-Walker Malformation As Major Feature 59 6

Classifications:



External Ids:

Orphanet 59 ORPHA269546

Summaries for Syndrome with a Dandy-Walker Malformation As Major Feature

MalaCards based summary : Syndrome with a Dandy-Walker Malformation As Major Feature is related to genetic syndrome with a dandy-walker malformation as major feature and mental retardation, autosomal recessive 55. An important gene associated with Syndrome with a Dandy-Walker Malformation As Major Feature is HYLS1 (HYLS1 Centriolar And Ciliogenesis Associated), and among its related pathways/superpathways are G-protein signaling TC21 regulation pathway and Semaphorin Signaling. Related phenotype is Decreased viability in esophageal squamous lineage.

Related Diseases for Syndrome with a Dandy-Walker Malformation As Major Feature

Diseases related to Syndrome with a Dandy-Walker Malformation As Major Feature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 genetic syndrome with a dandy-walker malformation as major feature 12.9
2 mental retardation, autosomal recessive 55 9.8 PUS3 HYLS1
3 renal cell carcinoma, papillary, 1 9.7 SETD2 BRAF
4 hydrolethalus syndrome 1 9.6 PUS3 HYLS1

Symptoms & Phenotypes for Syndrome with a Dandy-Walker Malformation As Major Feature

GenomeRNAi Phenotypes related to Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.02 BRAF DPYSL5 HYLS1 SETD2 TUBA1A

Drugs & Therapeutics for Syndrome with a Dandy-Walker Malformation As Major Feature

Search Clinical Trials , NIH Clinical Center for Syndrome with a Dandy-Walker Malformation As Major Feature

Genetic Tests for Syndrome with a Dandy-Walker Malformation As Major Feature

Anatomical Context for Syndrome with a Dandy-Walker Malformation As Major Feature

Publications for Syndrome with a Dandy-Walker Malformation As Major Feature

Variations for Syndrome with a Dandy-Walker Malformation As Major Feature

ClinVar genetic disease variations for Syndrome with a Dandy-Walker Malformation As Major Feature:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DPYSL5 NM_020134.4(DPYSL5): c.139G> A (p.Gly47Arg) single nucleotide variant Uncertain significance 2:27121506-27121506 2:26898638-26898638

Expression for Syndrome with a Dandy-Walker Malformation As Major Feature

Search GEO for disease gene expression data for Syndrome with a Dandy-Walker Malformation As Major Feature.

Pathways for Syndrome with a Dandy-Walker Malformation As Major Feature

Pathways related to Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.69 DPYSL5 BRAF
2 10.28 DPYSL5 BRAF

GO Terms for Syndrome with a Dandy-Walker Malformation As Major Feature

Sources for Syndrome with a Dandy-Walker Malformation As Major Feature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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